Canonical Allele Identifier: CA2650499682

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640864-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640864_215640865insGG , CM000663.2:g.215640864_215640865insGG	GRCh38
NC_000001.10:g.215814206_215814207insGG , CM000663.1:g.215814206_215814207insGG	GRCh37
NC_000001.9:g.213880829_213880830insGG	NCBI36
NG_009497.1:g.787532_787533insCC
NG_009497.2:g.787584_787585insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-131_14792-130insCC MANE Select	ENSP00000305941.3:n.14792-131_14792-130insCC
ENST00000674083.1:c.14792-131_14792-130insCC	ENSP00000501296.1:n.14792-131_14792-130insCC
ENST00000307340.7:c.14792-131_14792-130insCC	ENSP00000305941.3:n.14792-131_14792-130insCC
NM_206933.2:c.14792-131_14792-130insCC	NP_996816.2:n.14792-131_14792-130insCC
NM_206933.3:c.14792-131_14792-130insCC	NP_996816.2:n.14792-131_14792-130insCC
NM_206933.4:c.14792-131_14792-130insCC MANE Select	NP_996816.3:n.14792-131_14792-130insCC